Skeletal abnormalities in the Kniest syndrome with mucopolysacchariduria

P. W. Brill, H. J. Kim, N. G. Beratis, K. Hirschhorn

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


The roentgenographic and clinical findings are described in a mother and daughter with the Kniest syndrome associated with urinary keratan sulfate excretion. Osteoporosis, kyphoscoliosis, vertebral irregularity, pelvic deformity, flat femoral heads and enlargement of the ends of the long bones were the main roentgen findings. Irregularity of ossification on both sides of the growth plate was observed in the daughter, and marked degenerative changes were superimposed on several of the mother's abnormal joints. Abnormal mucopolysacchariduria, observed in both patients, and cataracts, fusion of the symphysis pubis, and deficiency of carpal bones, seen in the mother, have not been described previously.

Original languageEnglish
Pages (from-to)731-738
Number of pages8
JournalAmerican Journal of Roentgenology
Issue number3
StatePublished - 1975
Externally publishedYes


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